Riboflavin, or vitamin B2, plays an important role in the cell as biological
precursor of FAD and FMN, two important flavin cofactors which are essential for the
structure and function of flavoproteins. Riboflavin has been used in therapeutic approaches
of various inborn errors of metabolism, notably in metabolic disorders resulting
either from defects in proteins involved in riboflavin metabolism and transport
or from defects in flavoenzymes. The scope of this review is to provide an updated
perspective of clinical cases in which riboflavin was used as a potential therapeutic
agent in disorders affecting mitochondrial energy metabolism. In particular, we discuss
available mechanistic insights on the role of riboflavin as a pharmacological
chaperone for the recovery of misfolded metabolic flavoenzymes.
Keywords: Riboflavin-responsive, flavoenzymes, riboflavin transporters, metabolic disorders, mitochondrial beta-oxidation
disorders, respiratory chain deficiencies.
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